Heimbuch R C, Matthysse S, Kidd K K
Am J Hum Genet. 1980 Jul;32(4):564-74.
A necessary item of information in many genetic analysis of complex disorders with late onset is the cumulative probability of onset by a given age. The effect of sample design upon the estimation of age-of-onset probability distribution parameters is discussed. Mathematical descriptions of several common sample designs used to estimate the distribution parameters are developed here. Failure to describe the sample space adequately can lead to erroneous genetic analyses because the cumulative probability of onset is incorrectly estimated. In genetic counseling, the errors would usually result in an underestimate of the true risk.
在许多对迟发性复杂疾病的基因分析中，一个必要的信息项是到特定年龄发病的累积概率。本文讨论了样本设计对发病年龄概率分布参数估计的影响。这里推导了用于估计分布参数的几种常见样本设计的数学描述。如果没有充分描述样本空间，可能会导致错误的基因分析，因为发病的累积概率被错误估计。在遗传咨询中，这些错误通常会导致对真实风险的低估。
